Three New 46,XX Male Patients: A Clinical, Cytogenetic and Molecular Analysis

Grigorescu-Sido, Anca; Heinrich, U.; Grigorescu-Sido, Paula; Jauch, Anna; Hager, Hans-Dieter; Vogt, Peter H.; Duncea, Ileana; Bettendorf, Markus

doi:10.1515/jpem.2005.18.2.197

Cited by 24 publications

(8 citation statements)

References 19 publications

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“…The literature on the testicular biopsies of the XX males have revealed a complete lack of spermato-genic cells, with presence of only the Leydig's and the Sertoli cells [9]. The SCOS with the combinations of the Leydig's cells hyperplasia/hypoplasia or hyalinization of the tubules have been found in few other studies [6,10]. Some studies had also reported the presence of spermatogonia at birth in the XX male patients before puberty, but they had disappeared [11] after puberty, as was seen in Klinefelter's syndrome also.…”

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confidence: 99%

The Sertoli Cell Only Syndrome and Glaucoma in a Sex – Determining Region Y (SRY) Positive XX Infertile Male

Jain

Chaudhary²,

Halder³

2013

JCDR

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The XX male syndrome is a rare genetic disorder. The phenotype is variable; it ranges from a severe impairment of the external genitalia to a normal male phenotype with infertility. It generally results from an unequal crossing over between the short arms of the sex chromosomes (X and Y). We are reporting a case of a 38-year-old man who presented with infertility and the features of hypogonadism and glaucoma. The examinations revealed normal external male genitalia, soft small testes, gynaecomastia and glaucoma. The semen analysis showed azoospermia. The serum gonadotropins were high, with low Anti Mullerian Hormone (AMH) and Inhibin B levels. The chromosomal analysis demonstrated a 46, XX karyotype. Fluorescent In-Situ Hybridization (FISH) and Polymerase Chain Reaction (PCR) revealed the presence of a Sex-determining Region Y (SRY). Testicular Fine Needle Aspiration Cytology (FNAC) revealed the Sertoli Cell Only Syndrome (SCOS). The presence of only Sertoli Cells in the testes, with glaucoma in the XX male syndrome, to our knowledge, has not been reported in the literature.

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confidence: 99%

The Sertoli Cell Only Syndrome and Glaucoma in a Sex – Determining Region Y (SRY) Positive XX Infertile Male

Jain

Chaudhary²,

Halder³

2013

JCDR

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“…(), is a rarely seen genetic condition with an incidence of 1 in 20 000–24 000 newborn males (De la Chapelle, ; Rajender et al ., ). Most cases are usually diagnosed during evaluation for infertility or cryptorchidism (De la Chapelle, ; Pepene et al ., ; Rizvi, ; Tomomasa et al ., ; Yencilek & Baykal, ), with clinical manifestation of small testes, infantile sexual characteristics and azoospermia (Ergun‐Longmire et al ., ; Grigorescu‐Sido et al ., ). However, it should be noted that various degrees of phenotypic changes can also be seen, ranging from severe impairment of external genitalia to a normal male phenotype (Wu et al ., ).…”

Section: Discussionmentioning

confidence: 97%

A young male adolescent with feminine appearance: diagnosis of 46, XX syndrome neglected for 4 years with gynaecomastia presentation

Sheu

Tseng

et al. 2013

Andrologia

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Gynaecomastia is common in infancy and adolescent boys, but other inciting causes should be kept in mind and necessitate further evaluation should be conducted to determine any underlying conditions. A 22-year-old unmarried male adolescent visited our endocrinology clinic for feminine appearance despite operations for bilateral gynaecomastia 4 years ago. Physical examination showed inverted triangular distribution of pubic hair, sparse beard, small-sized testes, flaccid short penis and surgical scar of the chest wall. Serum hormones study revealed primary hypergonadotropic hypogonadism, and cytogenetic study disclosed female complement (46, XX). The authors recommend that sexual chromosome abnormality should be considered in patients with hypogonadism to avert androgen deficiency-related complications early and that long-term team care should be provided to improve the patient's health-related quality of life.

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“…In some cases, mosaicism can result in ambiguous genitalia and DSD with both an ova- ry and a testicle, particularly in cases where the SRY gene is translocated in the short arm of the X chromosome during the first male meiotic division [Modan-Moses et al, 2003;Grigorescu-Sido et al, 2005;Malan et al, 2007], as observed in a fetus with 46,XY/46,XX mosaicism associated with a normal male phenotype [Yaron et al, 1999;Malan et al, 2007]. The distinguishing factor is an intact SRY gene, which was present in our patient, without mutations or deletions in the sequencing analysis, thus, excluding a 46,XX/45,X mosaic.…”

Section: Discussionmentioning

confidence: 99%

Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated with Ambiguous Genitalia

Serra

Denzer²,

Hiort³

et al. 2015

Sex Dev

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Disorders of sex development (DSD) affect the development of chromosomal, gonadal and/or anatomical sex. We analyzed a patient with ambiguous genitalia aiming to correlate the genetic findings with the phenotype. Blood and tissue samples from a male patient with penoscrotal hypospadias were analyzed by immunohistochemistry, karyotyping and FISH. DNA was sequenced for the AR, SRY and DHH genes, and further 26 loci in different sex chromosomes were analyzed by MLPA. The gonosomal origin was evaluated by simple tandem repeat (STR) analysis and SNP array. Histopathology revealed a streak gonad, a fallopian tube and a rudimentary uterus, positive for placental alkaline phosphatase, cytokeratin-7 and c-kit, and negative for estrogen, androgen and progesterone receptors, alpha-inhibin, alpha-1-fetoprotein, β-hCG, and oct-4. Karyotyping showed a 45,X/46,XY mosaicism, yet FISH showed both 46,XX/46,XY mosaicism (gonad and urethral plate), 46,XX (uterus and tube) and 46,XY karyotypes (rudimentary testicular tissue). DNA sequencing revealed intact sequences in SOX9, WNT4, NR0B1, NR5A1, CYP21A2, SRY, AR, and DHH. STR analysis showed only one maternal allele for all X chromosome markers (uniparental isodisomy, UPD), with a weaker SRY signal and a 4:1 ratio in the X:Y signal. Our findings suggest that the observed complex DSD phenotype is the result of somatic gonosomal mosaicism and UPD despite a normal blood karyotype. The presence of UPD warrants adequate genetic counseling for the family and frequent, lifelong, preventive follow-up controls in the patient.

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Three New 46,XX Male Patients: A Clinical, Cytogenetic and Molecular Analysis

Cited by 24 publications

References 19 publications

The Sertoli Cell Only Syndrome and Glaucoma in a Sex – Determining Region Y (SRY) Positive XX Infertile Male

The Sertoli Cell Only Syndrome and Glaucoma in a Sex – Determining Region Y (SRY) Positive XX Infertile Male

A young male adolescent with feminine appearance: diagnosis of 46, XX syndrome neglected for 4 years with gynaecomastia presentation

Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated with Ambiguous Genitalia

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